Peavalud lapseeas

Peavalu on üks sagedasemaid arsti poole pöördumise põhjusi lastel ja noorukitel lihasluukonna ning kõhuvalude järel: seda esineb 54%-l lastest. Praegu on peavalude diagnoosimisel kasutusel rahvusvahelise peavaluhäirete klassifikatsiooni III väljaande esialgne ehk beetaversioon. Selle alusel jaotatakse peavalud kolme suurde rühma: primaarsed peavalud, sekundaarsed peavalud ja valulikud kraniaalsed neuropaatiad ning teised näo- ja peapiirkonna valud. Ka lastel nii nagu täiskasvanutel on kõige sagedasemad primaarsed peavalud, kuid oluline on diagnoosimisel välistada esmalt sekundaarsed peavalud. Järgneb õige peavalutüübi diagnoosimine ning seejärel sobivaimate leevendus- ja ravivõtete leidmine. Diagnostikas, haiguse kulu jälgimisel ning ravi tõhususe hindamisel on asendamatuks peavalupäevik. Primaarsete peavalude ravi hõlmab hoo ravi ja vajaduse korral profülaktilist ravi.Eesti Arst 2016; 95(4):242−24

Tüsistunud kuluga nefrootiline sündroom. Haigusjuhu kirjeldus

Nefrootilise sündroomiga lastel võivad tekkida trombemboolilised tüsistused 2–5%-l juhtudest. Põhjuseks on nefrootilise sündroomi korral esinev hüper-koagulatsioon. Sagedamini on haaratud algade süvaveenid, alumine õõnesveen või neerude veenid, harvem ajuveenid a venoossed siinused. Artiklis on kireldatud aju venoossete siinuste tromboosi juhtu idiopaatilise nefrootilise sündroomiga lapsel. Eesti Arst 2008; 87(3):210−21

Eesti ravijuhend „Epilepsia käsitlus fertiilses eas naistel ja rasedatel“

Eesti Arst 2022; 101(11):644–64

Kõnekeskuse lateralisatsioon ja kaugtulemused erineva vaskulaarse alatüübiga perinataalse insuldiga lastel

Eesti Arst 2022; 101(12):71

General ability and specific cognitive functions are lower in children with epilepsy after perinatal ischemic stroke

IntroductionEpilepsy develops in one third of children after perinatal stroke. Both epilepsy and stroke may be risk factors for impaired cognitive abilities. How the development of epilepsy is related to the cognitive profile of children with perinatal stroke is still unclear. The aim of the study was to evaluate general and specific cognitive functions in children with epilepsy and children without epilepsy after perinatal ischemic stroke.MethodsThe study group consisted of 51 children with perinatal ischemic stroke confirmed by magnetic resonance imaging: 27 (53%) children with arterial ischemic stroke and 24 (47%) with periventricular venous infarction. Magnetic resonance imaging and electroencephalography were performed in all patients after the neonatal period. Epilepsy was diagnosed if the child had at least two unprovoked seizures occurring >24 h apart or one unprovoked seizure with a high recurrence risk. Cognitive assessments were performed using the Kaufman Assessment Battery for Children, Second Edition, at the age of ≥7 years. General ability (Fluid Crystallized Index, Mental Processing Index, Non-verbal Index) and specific cognitive functions (sequential processing, simultaneous processing, learning, planning, knowledge) were evaluated.ResultsAt the median age of 19.3 years (interquartile range 14.0–22) at the time of follow-up for epilepsy, 14 (27.5%) patients had developed epilepsy, and 37 (72.5%) patients were without epilepsy. All general cognitive ability scores were lower in children with epilepsy compared to children without epilepsy. Among specific cognitive functions, simultaneous processing, planning, and knowledge were lower in children with epilepsy compared to children without epilepsy: simultaneous processing mean [78.5, 95% CI: [69.8, 87.2], vs. 96.9, 95% CI [90, 103.9], p = 0.0018]; planning mean [82.5, 95% CI: [73, 92], vs. 96.2, 95% CI: [88.7, 103.6], p = 0.026]; knowledge median (25th, 75th percentile): 80.5 (75, 87) vs. 92 (84, 108), p = 0.023.ConclusionChildren with epilepsy after perinatal ischemic stroke have lower general cognitive abilities compared to children without epilepsy. The profile of the subscales indicates lower verbal abilities and executive functions in children with epilepsy. Children with post-stroke epilepsy need targeted cognitive monitoring for early aimed rehabilitation and for establishing an adapted learning environment

Mutations in GABRB3

Objective: To examine the role of mutations in GABRB3 encoding the b3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. Methods: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs. Results: We identified 22 patients with heterozygous mutations in GABRB3, including 3 probands frommultiplex families. The phenotypic spectrum of the mutation carriers ranged from simple febrile seizures, genetic epilepsies with febrile seizures plus, and epilepsy withmyoclonic-atonic seizures to West syndrome and other types of severe, early-onset epileptic encephalopathies. Electrophysiologic analysis of 7 mutations in Xenopus laevis oocytes, using coexpression of wild-type or mutant beta(3), together with alpha(5) and gamma(2s) subunits and an automated 2-microelectrode voltage-clamp system, revealed reduced GABA-induced current amplitudes or GABA sensitivity for 5 of 7 mutations. Conclusions: Our results indicate that GABRB3 mutations are associated with a broad phenotypic spectrum of epilepsies and that reduced receptor function causing GABAergic disinhibition represents the relevant disease mechanism

Clinical Phenotype of De Novo Mutation

Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O ( GNAO1 ) gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys). Ohtahara syndrome is a devastating early infantile epileptic encephalopathy that can be caused by mutations in different genes, now also including GNAO1 . The mutation was found using a targeted next generation sequencing gene panel and demonstrates targeted sequencing as a powerful tool for identifying mutations in genes where only a few de novo mutations have been identified

Image_5_The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke.pdf

BackgroundEpilepsy is one of the most serious consequences of perinatal stroke. Epilepsy itself has been proposed as a risk factor for impaired cognitive, language, and behavioral functioning. It is still unclear which children develop epilepsy after perinatal stroke. The current study aimed to evaluate the volume of the thalamus and the basal ganglia in children after perinatal stroke in relation to poststroke epilepsy.MethodsThe follow-up study included 29 children with perinatal arterial ischemic stroke (AIS), 33 children with presumed periventricular venous infarction (PVI), and 46 age- and sex-matched healthy controls. Magnetic resonance imaging was performed in children between the ages of 4 and 18 years, and volumetric analysis by segmentation was used to evaluate the size of the thalamus, caudate nucleus, putamen, globus pallidus, hippocampus, amygdala, and nucleus accumbens.ResultsDuring a median follow-up time of 12.8 years [interquartile range (IQR): 10.8–17.3] in the AIS group and 12.5 years (IQR: 9.3–14.8) in the PVI group (p = 0.32), epilepsy developed in 10 children (34.5%) with AIS and in 4 (12.1%) children with PVI, p = 0.036 [odds ratio (OR) = 3.8, 95%, confidence interval (CI): 1.04–14]. Epilepsy and interictal epileptiform discharges (IEDs) without clinical seizures were more often expressed in children with AIS (n = 16, 55%) than in children with PVI (n = 7, 21.2%), p = 0.0057 (OR = 3.8 95% CI: 1.04–14). In the AIS group, the ipsilesional and contralesional thalamus, ipsilesional caudate nucleus, and nucleus accumbens were significantly smaller in children with epilepsy compared to children without epilepsy. In the PVI group, the ipsilesional thalamus, caudate nucleus, and nucleus accumbens were smaller in the pooled group of epilepsy plus IED alone compared to children without epilepsy.ConclusionIn children with AIS, epilepsy or IED occurred more often compared to children with PVI. Both patients with AIS and PVI with severe damage to the basal ganglia and the thalamus have a higher risk of developing poststroke epilepsy and should be monitored more closely throughout childhood to initiate timely antiseizure medication and rehabilitation.</p

Image_2_The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke.pdf

BackgroundEpilepsy is one of the most serious consequences of perinatal stroke. Epilepsy itself has been proposed as a risk factor for impaired cognitive, language, and behavioral functioning. It is still unclear which children develop epilepsy after perinatal stroke. The current study aimed to evaluate the volume of the thalamus and the basal ganglia in children after perinatal stroke in relation to poststroke epilepsy.MethodsThe follow-up study included 29 children with perinatal arterial ischemic stroke (AIS), 33 children with presumed periventricular venous infarction (PVI), and 46 age- and sex-matched healthy controls. Magnetic resonance imaging was performed in children between the ages of 4 and 18 years, and volumetric analysis by segmentation was used to evaluate the size of the thalamus, caudate nucleus, putamen, globus pallidus, hippocampus, amygdala, and nucleus accumbens.ResultsDuring a median follow-up time of 12.8 years [interquartile range (IQR): 10.8–17.3] in the AIS group and 12.5 years (IQR: 9.3–14.8) in the PVI group (p = 0.32), epilepsy developed in 10 children (34.5%) with AIS and in 4 (12.1%) children with PVI, p = 0.036 [odds ratio (OR) = 3.8, 95%, confidence interval (CI): 1.04–14]. Epilepsy and interictal epileptiform discharges (IEDs) without clinical seizures were more often expressed in children with AIS (n = 16, 55%) than in children with PVI (n = 7, 21.2%), p = 0.0057 (OR = 3.8 95% CI: 1.04–14). In the AIS group, the ipsilesional and contralesional thalamus, ipsilesional caudate nucleus, and nucleus accumbens were significantly smaller in children with epilepsy compared to children without epilepsy. In the PVI group, the ipsilesional thalamus, caudate nucleus, and nucleus accumbens were smaller in the pooled group of epilepsy plus IED alone compared to children without epilepsy.ConclusionIn children with AIS, epilepsy or IED occurred more often compared to children with PVI. Both patients with AIS and PVI with severe damage to the basal ganglia and the thalamus have a higher risk of developing poststroke epilepsy and should be monitored more closely throughout childhood to initiate timely antiseizure medication and rehabilitation.</p

Image_1_The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke.pdf

BackgroundEpilepsy is one of the most serious consequences of perinatal stroke. Epilepsy itself has been proposed as a risk factor for impaired cognitive, language, and behavioral functioning. It is still unclear which children develop epilepsy after perinatal stroke. The current study aimed to evaluate the volume of the thalamus and the basal ganglia in children after perinatal stroke in relation to poststroke epilepsy.MethodsThe follow-up study included 29 children with perinatal arterial ischemic stroke (AIS), 33 children with presumed periventricular venous infarction (PVI), and 46 age- and sex-matched healthy controls. Magnetic resonance imaging was performed in children between the ages of 4 and 18 years, and volumetric analysis by segmentation was used to evaluate the size of the thalamus, caudate nucleus, putamen, globus pallidus, hippocampus, amygdala, and nucleus accumbens.ResultsDuring a median follow-up time of 12.8 years [interquartile range (IQR): 10.8–17.3] in the AIS group and 12.5 years (IQR: 9.3–14.8) in the PVI group (p = 0.32), epilepsy developed in 10 children (34.5%) with AIS and in 4 (12.1%) children with PVI, p = 0.036 [odds ratio (OR) = 3.8, 95%, confidence interval (CI): 1.04–14]. Epilepsy and interictal epileptiform discharges (IEDs) without clinical seizures were more often expressed in children with AIS (n = 16, 55%) than in children with PVI (n = 7, 21.2%), p = 0.0057 (OR = 3.8 95% CI: 1.04–14). In the AIS group, the ipsilesional and contralesional thalamus, ipsilesional caudate nucleus, and nucleus accumbens were significantly smaller in children with epilepsy compared to children without epilepsy. In the PVI group, the ipsilesional thalamus, caudate nucleus, and nucleus accumbens were smaller in the pooled group of epilepsy plus IED alone compared to children without epilepsy.ConclusionIn children with AIS, epilepsy or IED occurred more often compared to children with PVI. Both patients with AIS and PVI with severe damage to the basal ganglia and the thalamus have a higher risk of developing poststroke epilepsy and should be monitored more closely throughout childhood to initiate timely antiseizure medication and rehabilitation.</p